Canonical Allele Identifier: CA3732690

Gene: CYP21A2

Linked Data

• dbSNP Id: rs182037914
• ExAC: 6:32008570 T / C
• gnomAD v2: 6-32008570-T-C
• gnomAD v3: 6-32040793-T-C
• gnomAD v4: 6-32040793-T-C
• MyVariant Identifiers: chr6:g.32008570T>C (hg19) ; chr6:g.32040793T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32040793T>C , CM000668.2:g.32040793T>C	GRCh38
NC_000006.11:g.32008570T>C , CM000668.1:g.32008570T>C	GRCh37
NC_000006.10:g.32116549T>C	NCBI36
NG_007941.2:g.7486T>C
NG_008337.2:g.73582A>G
NG_007941.3:g.7489T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644719.2:c.1222+22T>C MANE Select	ENSP00000496625.1:n.1222+22T>C
ENST00000418967.6:c.1222+22T>C	ENSP00000408860.2:n.1222+22T>C
ENST00000435122.3:c.1132+22T>C	ENSP00000415043.2:n.1132+22T>C
ENST00000479074.5:n.1363+22T>C
ENST00000479730.5:n.1338+22T>C
ENST00000483041.5:n.1391+22T>C
ENST00000486063.5:n.1201+22T>C
NM_000500.7:c.1222+22T>C	NP_000491.4:n.1222+22T>C
NM_001128590.3:c.1132+22T>C	NP_001122062.3:n.1132+22T>C
XM_011514314.1:c.817+22T>C	XP_011512616.1:n.817+22T>C
NM_000500.9:c.1222+22T>C MANE Select	NP_000491.4:n.1222+22T>C
NM_001368143.1:c.817+22T>C	NP_001355072.1:n.817+22T>C
NM_001368144.1:c.817+22T>C	NP_001355073.1:n.817+22T>C
NM_001128590.4:c.1132+22T>C	NP_001122062.3:n.1132+22T>C
NM_001368143.2:c.817+22T>C	NP_001355072.1:n.817+22T>C
NM_001368144.2:c.817+22T>C	NP_001355073.1:n.817+22T>C